title: Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases.
abstract: Clinical and genetic data of 10 patients with neurofibromatosis 2 (NF-2) are presented. Interestingly, no family history of neurofibromatosis was detectable in any of them, which indicates that these are sporadic cases of NF-2, most likely due to a new mutational event. According to our own results and the data in the literature, sporadic cases of NF-2 are clinically characterized by a high incidence of multiple meningiomas and spinal tumors in addition to the bilateral occurrence of acoustic neurinomas. The clinical heterogeneity of NF-2 is pointed out and the possible existence of different forms of this disease is discussed.
authors.affiliation: Department of General Neurosurgery, University of Freiburg, Germany.
authors.forename: L
authors.initials: L
authors.lastname: Mayfrank
authors.forename: B
authors.initials: B
authors.lastname: Wullich
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: J
authors.initials: J
authors.lastname: Finke
authors.forename: E
authors.initials: E
authors.lastname: Gouzoulis
authors.forename: J M
authors.initials: JM
authors.lastname: Gilsbach
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics; D008579:Meningioma / Q000235:genetics; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D009464:Neuroma, Acoustic / Q000235:genetics*; D013125:Spinal Neoplasms / Q000235:genetics